Canonical Allele Identifier: CA1515643483
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438777G= , CM000666.2:g.177438777G= GRCh38
NC_000004.11:g.178359931G= , CM000666.1:g.178359931G= GRCh37
NC_000004.10:g.178596925G= NCBI36
NG_011845.2:g.8727C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.475C= MANE Select ENSP00000264595.2:p.Leu159=
ENST00000264595.6:c.475C= ENSP00000264595.2:p.Leu159=
ENST00000502310.5:c.130C= ENSP00000423798.1:p.Leu44=
ENST00000506853.5:n.509C=
ENST00000510635.1:c.171C=
ENST00000510955.5:n.396C=
NM_000027.3:c.475C= NP_000018.2:p.Leu159=
NM_001171988.1:c.475C= NP_001165459.1:p.Leu159=
NR_033655.1:n.603C=
XM_006714123.2:c.475C= XP_006714186.1:p.Leu159=
XR_001741155.2:n.569C=
NM_000027.4:c.475C= MANE Select NP_000018.2:p.Leu159=
NM_001171988.2:c.475C= NP_001165459.1:p.Leu159=
NR_033655.2:n.537C=